TAY-SACHS DISEASE

CAUSES OF THE DISEASE

• Gene(s) Responsible: Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. Which accumulates to toxic levels, particularly in neurons in the brain and spinal cord.
• It is a recessive trait. So if both parents have this trait then the child will be at a 25% chance of having this disease.

PATHOLOGY

• Symptoms: seizures, vision and hearing loss, red spots in the eyes, muscle weakness, movement problems, etc.
• Diagnosis: doctors check the symptoms, any hereditary family disorders and have a blood test done.
• Impact: they will need medication, feeding tubes, respiratory care, physical therapy and constant attention.

PREVALENCE

• How Common: 1 in every 300 people is a carrier.
• It is more common among Ashkenazi Jewish people. In this case, 1 in every 30 people is a carrier.

TREATMENTS

• Possibilities: there is no care for Tay-Sachs disease. Treatment typically consists of keeping the child in what is called palliative care.
• Pros and Cons: Pro: it keeps the child from feeling pain and from uncomfortableness. Con: they are just prolonging the death of the child.

CITED WORKS

• In-text: (Reference, 2018) Your Bibliography: Reference, G. (2018). Tay-Sachs disease. Retrieved from https://ghr.nlm.nih.gov/condition/tay-sachs-disease
• In-text: ("Tay-Sachs disease - Symptoms and causes", 2018) Your Bibliography: Tay-Sachs disease - Symptoms and causes. (2018). Retrieved from https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/symptoms-c...